ICD-10: E71.12

Rapp-Hodgkin syndrome CEDNIK syndrome Vici syndrome MEDNIK syndrome EAST syndrome Barber-Say syndrome ataxia with oculomotor apraxia type 3 3MC syndrome 3 Nance-Horan syndrome Prieto syndrome Miles-Carpenter syndrome Christianson syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Ohdo syndrome Ohdo syndrome, SBBYS variant obsolete carbohydrate metabolism disease monogenic disease Donohue syndrome Alstrom syndrome Gamstorp-Wohlfart syndrome obsolete Majewski syndrome L-2-hydroxyglutaric aciduria glycogen storage disease XV ABCD syndrome Bamforth-Lazarus syndrome Birk-Barel syndrome Borjeson-Forssman-Lehmann syndrome Brown-Vialetto-Van Laere syndrome PHGDH deficiency PSAT deficiency PSPH deficiency Qazi Markouizos syndrome adenylosuccinase lyase deficiency ARC syndrome obsolete Opitz-GBBB syndrome Kahrizi syndrome Marshall-Smith syndrome Townes-Brocks syndrome spastic ataxia 2 janus kinase-3 deficiency Pearson syndrome Warburg micro syndrome Van Maldergem syndrome MASA syndrome renal-hepatic-pancreatic dysplasia pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia type 6